Masadeh M. The effectiveness of the latest methods for predicting the development of age-related macular degeneration based on clinical and biomolecular relationships

The dissertation is devoted to increase the efficiency of diagnosis and prognosing of age-related macular degeneration by determining the role of risk factors and genetic polymorphism of candidate genes (TNF, HTRA1, CFH) in its occurrence and progression in patients in Ukraine. The association of the polymorphism rs1800629 of the TNF gene with the development of age-related macular degeneration was established. Carrying the minor allele A increases the chance of the "dry" form of the disease by 2.39 times, and the "wet" form by 2.74 times. Carrying the heterozygous polymorphism variant (GA) increases the risk of the occurrence of the "dry" form of AMD by 2.68 times, and the neovascular form - by 4.05 times. The homozygous carrier of the minor allele (AA) increases the chance of developing the "dry" form of pathology by 2.90 times, and the "wet" form by 2.24 times. The association of genotype combinations of polymorphisms rs1800629 of the TNF gene - rs1061170 of the CFH gene - rs11200638 of the HTRA1 gene with the development of AMD was found. A statistically significant association with the "dry" form of AMD was found for 4 combinations of genotypes, G/A-C/C-G/A, G/A-T/TG/A (p=0.005), G/A-T/C-G/A (p<0.001). An association with the risk of developing "wet" AMD was found with 4 combinations of genotypes: G/A-C/C-G/A, G/A-C/CG/G, G/G-T/C-G/A, G/A-T/C-G/A. For the first time, a combination of genotypes (TNF rs1800629 – CFH rs1061170 – HTRA1 rs11200638) was detected among residents of the Podillya region of Ukraine, a significant protective effect was detected for carriers of three ombinations of genotypes with regard to the risk of developing both forms of AMD: G/A-T/T-G/G , G/G-T/T-G/G and G/G-T/T-G/A. Moreover, the last two combinations had the greatest protective effect on the risk of developing a "wet" form. The greatest prognostic significance regarding the risk of "dry" AMD was the combination of genotypes G/A-C/C-G/A, G/A-T/C-G/A and G/A-T/T-G/A. The combination of G/A-C/C-G/A genotypes had the greatest prognostic significance regarding the risk of "wet" AMD.